Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Schinzel-Giedion 증후군 및 혈액 악성 종양에서 중복 SETBP1 기능 획득 돌연변이
Research Article
[키워드] accumulation
activating
affecting
alteration
alterations
Author
Cancer
caused
cell proliferation
cellular
characterized
clinical information
clinical phenotype
Clustering
Cohort
collected
de novo
de novo mutation
Degradation
developmental
developmental disorder
developmental disorders
disrupt
Disruption
distribution
Drawing
driven by
driving
Effect
event
events
ExoN
functional
gain-of-function
genetics
Genotype
genotype-phenotype correlation
germline
Hematologic malignancy
hotspot
implicated
in silico
in vitro
incidence
increase in
increased risk
individual
lead
leukemia
magnitude
malformation
malignancy
Mendelian disorder
Mendelian disorders
molecular
Mutation
mutations
neurological
occur
overlap
Patient
phenotype
prenatal development
Previous studies
previous study
Protein
protein level
protein levels
Regulation
required
residue
risk
SETBP1
signal
significantly more
somatic mutation
somatic mutations
stability
subject
Substitution
substitutions
Support
syndrome
threshold
[DOI] 10.1371/journal.pgen.1006683 PMC 바로가기 [Article Type] Research Article
[DOI] 10.1371/journal.pgen.1006683 PMC 바로가기 [Article Type] Research Article